Aliases for NHSL1 Gene

Aliases for NHSL1 Gene

  • NHS Like 1 2 3 5
  • NHS-Like Protein 1 3 4
  • KIAA1357 2 4
  • C6orf63 3 4
  • Chromosome 6 Open Reading Frame 63 2
  • BA43P8.1 2
  • NHSL1 5

External Ids for NHSL1 Gene

Previous HGNC Symbols for NHSL1 Gene

  • C6orf63

Previous GeneCards Identifiers for NHSL1 Gene

  • GC06M138784
  • GC06M136304
  • GC06M138743

Summaries for NHSL1 Gene

GeneCards Summary for NHSL1 Gene

NHSL1 (NHS Like 1) is a Protein Coding gene. Diseases associated with NHSL1 include Nance-Horan Syndrome. An important paralog of this gene is NHS.

Additional gene information for NHSL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NHSL1 Gene

Genomics for NHSL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NHSL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NHSL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NHSL1

Top Transcription factor binding sites by QIAGEN in the NHSL1 gene promoter:
  • AREB6
  • C/EBPalpha
  • FAC1
  • GATA-1
  • GATA-2
  • GATA-3
  • HSF1short
  • p53
  • Pax-4a
  • POU6F1 (c2)

Genomic Locations for NHSL1 Gene

Genomic Locations for NHSL1 Gene
chr6:138,422,043-138,692,616
(GRCh38/hg38)
Size:
270,574 bases
Orientation:
Minus strand
chr6:138,743,180-139,013,708
(GRCh37/hg19)
Size:
270,529 bases
Orientation:
Minus strand

Genomic View for NHSL1 Gene

Genes around NHSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NHSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHSL1 Gene

Proteins for NHSL1 Gene

  • Protein details for NHSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SYE7-NHSL1_HUMAN
    Recommended name:
    NHS-like protein 1
    Protein Accession:
    Q5SYE7
    Secondary Accessions:
    • Q3ZCS5
    • Q5SYE8
    • Q9P2J0

    Protein attributes for NHSL1 Gene

    Size:
    1610 amino acids
    Molecular mass:
    170668 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NHSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NHSL1 Gene

Post-translational modifications for NHSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NHSL1 Gene

Domains & Families for NHSL1 Gene

Gene Families for NHSL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NHSL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NHSL1 Gene

GenScript: Design optimal peptide antigens:
  • NHS-like protein 1 (NHSL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5SYE7

UniProtKB/Swiss-Prot:

NHSL1_HUMAN :
  • Belongs to the NHS family.
Family:
  • Belongs to the NHS family.
genes like me logo Genes that share domains with NHSL1: view

Function for NHSL1 Gene

Phenotypes From GWAS Catalog for NHSL1 Gene

genes like me logo Genes that share phenotypes with NHSL1: view

Animal Models for NHSL1 Gene

MGI Knock Outs for NHSL1:
  • Nhsl1 Nhsl1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NHSL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NHSL1 Gene

Localization for NHSL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NHSL1 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NHSL1 Gene

Pathways & Interactions for NHSL1 Gene

PathCards logo

SuperPathways for NHSL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NHSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with NHSL1: view

No data available for Pathways by source and SIGNOR curated interactions for NHSL1 Gene

Drugs & Compounds for NHSL1 Gene

No Compound Related Data Available

Transcripts for NHSL1 Gene

mRNA/cDNA for NHSL1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NHSL1

Alternative Splicing Database (ASD) splice patterns (SP) for NHSL1 Gene

No ASD Table

Relevant External Links for NHSL1 Gene

GeneLoc Exon Structure for
NHSL1

Expression for NHSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NHSL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NHSL1 Gene

This gene is overexpressed in Plasma (47.0) and Placenta (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NHSL1 Gene



Protein tissue co-expression partners for NHSL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NHSL1

SOURCE GeneReport for Unigene cluster for NHSL1 Gene:

Hs.652741

mRNA Expression by UniProt/SwissProt for NHSL1 Gene:

Q5SYE7-NHSL1_HUMAN
Tissue specificity: Widely expressed. Expressed in adult and fetal brain, fetal eyes, adult lens, kidney, liver and intestine.

Evidence on tissue expression from TISSUES for NHSL1 Gene

  • Nervous system(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with NHSL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NHSL1 Gene

Orthologs for NHSL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NHSL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NHSL1 30 31
  • 98.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NHSL1 30 31
  • 83.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NHSL1 30 31
  • 82.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nhsl1 30 17 31
  • 81.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nhsl1 30
  • 80.42 (n)
Oppossum
(Monodelphis domestica)
Mammalia NHSL1 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 60 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
Chicken
(Gallus gallus)
Aves NHSL1 31
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NHSL1 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nhsl1 30
  • 54.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii nhsl1b 30 31
  • 60.01 (n)
OneToMany
nhsl1a 31
  • 34 (a)
OneToMany
Species where no ortholog for NHSL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NHSL1 Gene

ENSEMBL:
Gene Tree for NHSL1 (if available)
TreeFam:
Gene Tree for NHSL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NHSL1: view image

Paralogs for NHSL1 Gene

Paralogs for NHSL1 Gene

genes like me logo Genes that share paralogs with NHSL1: view

Variants for NHSL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NHSL1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709770 Benign: not provided 138,432,944(-) G/A SYNONYMOUS_VARIANT
710994 Benign: not provided 138,424,420(-) G/C SYNONYMOUS_VARIANT
768111 Benign: not provided 138,447,163(-) A/C MISSENSE_VARIANT
781010 Benign: not provided 138,432,050(-) C/T SYNONYMOUS_VARIANT
781011 Benign: not provided 138,432,794(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NHSL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NHSL1 Gene

Variant ID Type Subtype PubMed ID
esv1934223 CNV deletion 18987734
esv2399126 CNV deletion 18987734
esv2469347 CNV deletion 19546169
esv2732769 CNV deletion 23290073
esv2732770 CNV deletion 23290073
esv2732771 CNV deletion 23290073
esv2752090 CNV gain 17911159
esv3610957 CNV loss 21293372
nsv1117668 CNV deletion 24896259
nsv1124122 CNV deletion 24896259
nsv5499 CNV deletion 18451855

Variation tolerance for NHSL1 Gene

Gene Damage Index Score: 4.65; 65.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NHSL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NHSL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHSL1 Gene

Disorders for NHSL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NHSL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • nhs
- elite association - COSMIC cancer census association via MalaCards
Search NHSL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NHSL1

genes like me logo Genes that share disorders with NHSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NHSL1 Gene

Publications for NHSL1 Gene

  1. Identification of the gene for Nance-Horan syndrome (NHS). (PMID: 15466011) Brooks SP … Hardcastle AJ (Journal of medical genetics 2004) 3 4
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3

Products for NHSL1 Gene

Sources for NHSL1 Gene